MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 11
OrphanetNr:
OMIM Id: 615838
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002376) Developmental regression 74 / 7739
2
 (HPO:0001285) Spastic tetraparesis 29 / 7739
3
 (HPO:0001254) Lethargy 104 / 7739
4
 (HPO:0001903) Anemia 289 / 7739
5
 (HPO:0003128) Lactic acidosis 116 / 7739
6
 (HPO:0002151) Increased serum lactate 92 / 7739
7
 (HPO:0002878) Respiratory failure 57 / 7739
8
 (HPO:0001324) Muscle weakness 859 / 7739
9
 (HPO:0001252) Muscular hypotonia 990 / 7739
10
 (HPO:0002059) Cerebral atrophy 171 / 7739
11
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: